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Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and in- tellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appro- priate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonpro fi t family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties pro- vided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of indi- viduals with CFC, provide best practice recommendations, and facilitate long-term medical care. Pediatrics 2014;134:e1149 – e1162
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Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, and Management Guidelines

Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably Noonan syndrome and Costello syndrome. CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and in- tellectual disability. It is essential that this condition be differentiated from other RASopathies, as a correct diagnosis is important for appro- priate medical management and determining recurrence risk. Children and adults with CFC require multidisciplinary care from specialists, and the need for comprehensive management has been apparent to families and health care professionals caring for affected individuals. To address this need, CFC International, a nonpro fi t family support organization that provides a forum for information, support, and facilitation of research in basic medical and social issues affecting individuals with CFC, organized a consensus conference. Experts in multiple medical specialties pro- vided clinical management guidelines for pediatricians and other care providers. These guidelines will assist in an accurate diagnosis of indi- viduals with CFC, provide best practice recommendations, and facilitate long-term medical care. Pediatrics 2014;134:e1149 – e1162
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The impact of RASopathy-associated mutations on CNS development in mice and humans

The impact of RASopathy-associated mutations on CNS development in mice and humans

Ascl1: Achaete scute-like 1; BLBP: Brain lipid binding protein; CFCS: Cardio- facio-cutaneous syndrome; CKO: Conditional knockout; CNS: Central nervous system; CS: Costello syndrome; ERK: Extracellular signal-regulated kinase; GABAergic: Gamma-aminobutyric acidergic; GAPs: GTPase activating proteins; GEFs: Guanine nucleotide exchange factors; GFAP: Glial fibrillary acidic protein; GNPs: Granule neuron progenitors; HCM: Hypertrophic cardiomyopathy; iPSCs: Induced pluripotent stem cells; JAK: Janus kinase; KRAS: Kirsten rat sarcoma viral oncogene homolog; MEK1/2: MAPK/ERK kinase 1/2; Neurog2: Neurogenin 2; NF1: Neurofibromatosis type 1; NRAS: Neuroblastoma RAS viral oncogene homolog; NS: Noonan syndrome; NSCs: Neural stem cells; NSML: Noonan syndrome with multiple lentigines; PI3K: Phosphatidylinositol 3-kinase; PTPN11: Protein tyrosine phosphatase non-receptor type 11; RTKs: Receptor tyrosine kinases; SHOC2: Soc-2 suppressor of clear homolog; SOS1: Son of sevenless homolog 1; STAT: Signal transducer and activator of transcription
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RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?

RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?

RASopathies include Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFCS). These syndromes have overlapping features, such as craniofacial dysmorphisms; cardiac malformations; cutaneous, musculoskeletal, and ocular abnormalities; and developmental delay. 7 The overall incidence

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Blood lead is significantly associated with metabolic syndrome in Korean adults: an analysis based on the Korea National Health and Nutrition Examination Survey (KNHANES), 2008

Blood lead is significantly associated with metabolic syndrome in Korean adults: an analysis based on the Korea National Health and Nutrition Examination Survey (KNHANES), 2008

: Blood lead is significantly associated with metabolic syndrome in Korean adults: an analysis based on the Korea National Health and Nutrition Examination Survey (KNHANES), 2008. Cardio[r]

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Inverse relationship of cardioankle vascular index with BMI in healthy Japanese subjects: a cross-sectional study

Inverse relationship of cardioankle vascular index with BMI in healthy Japanese subjects: a cross-sectional study

this study by age into tertiles: lower (33.1 ± 5.0 years, n = 7,878), middle (47.1 ± 3.8 years, n = 7,577), and upper (61.0 ± 6.1 years, n = 7,802) and investigated the contribution of BMI to CAVI in each group using logistic regression analysis. We found approximately equal degree of inverse relationship between CAVI and BMI in all three tertiles (data not shown). However, these data do not imply a similar inverse relation- ship between CAVI and BMI in elderly subjects. While weight gain is a risk factor for CVD, an inverse relationship between BMI and CAVI was observed in the present study. An increase in number of risk factors for metabolic syndrome has been shown to correlate positively with an increase in CAVI. 36
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A study of hyponatremia in acute heart failure patients in predicting the acute cardio renal syndrome type 1

A study of hyponatremia in acute heart failure patients in predicting the acute cardio renal syndrome type 1

Obesity leads to type 2 diabetes mellitus (DM), hypertension, obstructive sleep apnea, atrial fibrillation, HF, hyperuricemia, and CKD, all directly or indirectly related to excess adiposity. The adipocytes secrete cytokines which cause cardiac and renal injury by (IL)-6 and TNF alpha. The IL-6 release high- sensitivity C-reactive protein. Thus, hs CRP levels are increased in obese individuals .Changes in the leve lof lipid content within cardiomyocytes are playing a pathological role in cardiac remodeling. Obesity-related glomerulopathy is described as a condition of hyperfiltration in obese individuals without DM that ultimately predisposes to CRS type 1 .cardiometabolic syndrome in the absence of DM has been associated with 3- to 7-fold increased risk of CRS type 1
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Identification of novel genomic imbalances in Saudi patients with congenital heart disease

Identification of novel genomic imbalances in Saudi patients with congenital heart disease

This is a 7-year-old boy who was the product of full nor- mal spontaneous vaginal delivery with a birthweight of 3.5 kg. He was well until the age of 8 months when he was noticed to have flexion swinging movements in the hands and wrists that were spontaneous and exaggerated by irritability. There were no other abnormal movements or seizures. He was delayed in attaining milestones with severely impaired cognitive, linguistics and social skills. He was also diagnosed with atrial septal defect. His par- ents are first-cousins. They have 2 other children who are alive and well. There was no family history of a simi- lar disease. On examination, his head circumference was around 50th percentile, weight was at the 97th percent- ile, and height was just above the 97th percentile. He had low-set ears and prominent philtrum. His tone, power and reflexes were normal. There were no neuro- cutaneous manifestations. Skeletal survey, brain MRI and ultrasound of abdomen were normal.
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Erythropoiesis Stimulating Agents (ESAs) in the Treatment of Cardio Renal Syndrome Anaemia

Erythropoiesis Stimulating Agents (ESAs) in the Treatment of Cardio Renal Syndrome Anaemia

FDA recommendations refers not only to ESRD pa- tients but also to patients with cardio-renal syndrome anaemia especially type 2 and 4 so it is wise to accept these recommendations in clinical practice when we treat with ESAs patients with cardio-renal syndrome anaemia. In conclusion we have to pay much more attention in treating cardio-renal anaemia either by erythropoiesis stimulating agents or intravenous iron. It seems likely that, according to FDA, the target hemoglobin must not exceed 11 g/dL. ESAs administration has to begin with the lower recommended doses until target hemoglobin is achieved and then dose titration must be prompted. If patient does not exhibit successful response it is not wise to increase ESAs dose until definite convincing results
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Obstructive sleep apnea syndrome: natural history, diagnosis, and emerging treatment options

Obstructive sleep apnea syndrome: natural history, diagnosis, and emerging treatment options

Effect of continuous positive airway pressure treatment on serum cardiovascular risk factors in patients with obstructive sleep apnea-hypopnea syndrome. Circulating cardio[r]

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Twin Transfusion Syndrome Causing Cutaneous Erythropoiesis

Twin Transfusion Syndrome Causing Cutaneous Erythropoiesis

Not all donor twins from pregnancies compli- cated by the twin transfusion syndrome would be expected to exhibit blueberry muffin lesions of cu- taneous erythropoiesis. The erythropoieti[r]

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Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome

Retrospective case series describing the efficacy, safety and cost-effectiveness of a vial-sharing programme for canakinumab treatment for paediatric patients with cryopyrin-associated periodic syndrome

Fig. 1 Cryopyrin associated periodic syndrome disease activity score pre-and post canakinumab. The difference between CAPS DAS scores before and after canakinumab treatment was highly significant (P < 0.0001). A standardised approach was used to monitor CAPS disease activity, as described previously in this clinic [3]. In brief, this consisted of standardised documentation of clinical disease activity using the CAPS disease activity score (DAS) (please see Additional file 1). The DAS depicts disease activity using ten symptoms/signs; absence of disease activity was defined as a score of 0/20; minimal disease activity was depicted by a score ≤ 3/20; and a maximum score of 20 indicated maximal disease activity. The figure shows that before commencing canakinumab treatment, the median CAPS DAS was 6.5/20 (range 0 – 11/20), with 95% of patients scoring > 3/20 (Fig. 1)
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A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy

A Novel CIAS1 Mutation and Plasma/Cerebrospinal Fluid Cytokine Profile in a German Patient With Neonatal-Onset Multisystem Inflammatory Disease Responsive to Methotrexate Therapy

ABBREVIATIONS. NOMID, neonatal-onset multisystem inflam- matory disease; CINCA, chronic infantile neurological cutaneous and articular syndrome; CNS, central nervous system; MWS, Muckle-Wells syndrome; FCAS, familial cold autoinflammatory syndrome; IL, interleukin; MTX, methotrexate; CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; Ig, immunoglobulin; CSF, cerebrospinal fluid; PCR, polymerase chain reaction; sTNFRSF1B, soluble tumor necrosis factor receptor superfamily 1B; ELISA, enzyme-linked immunosorbent assay; TNF, tumor ne- crosis factor.

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Review Article A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition

Review Article A novel mosaic 22q11.2 micro-duplication syndrome: clinical report and literature review. Cerebro-oculo-facio-urethrogenito-skeletal syndrome: de novo condition

During the first visit of the patient, our first clini- cal impression was Wolf-Hirschhorn Syndrome due to findings such as hypertelorism, down- slanting palpebral fissures, epicanthal folds, strabismus, coloboma, ptosis, microphthalmia, microcornea, cataracts, cryptoorchidism, hypo- spadias, hypoplastic widely spaced nipples, kyphoscoliosis, dental abnormalities. But the conventional chromosomal analysis and FISH analysis failed to confirm any abnormalities in chromosome 4. Clarke RA et al. first described a case of the association of Klippel-Feil syn- drome, Tourette syndrome, motor stereotypies, and obsessive compulsive behavior, with chro- mosome 22q11.2 duplication syndrome, [16]. This child exhibited short neck with low poste- rior hairline, abnormal scapulae, and webbing of toes. Beside mild short and webbed neck, although our patient also demonstrated de- layed growth, wide-set nipples, pectus excava- tum, winged right scapula and hallus valgus-the findings that resemble the Noonan syndrome- we were unable to confirm such diagnosis asso- ciated with any gene mutation of PTPN11, KRAS, RAF1, SOS1. A patient with an interstitial inverted duplication of 22q11.2 and typical fea- tures of cat eye syndrome including colobo- ma, preauricular anomalies, heart defect, renal
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A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene

A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene

Fumarate hydratase is the enzyme responsible for con- verting fumarate to malate in the tricyclic carboxylic acid cycle. Decreased expression of FH leads to a buildup of fumarate, succinate, and 2-oxoglutarate, as well as increased cellular dependence on glycolysis for ATP production. Fum- arate hydratase acts as a tumor suppressor gene by regulating hypoxia inducible factor (HIF), which in increased quantities appears to be strongly associated with renal malignancies. HIF 1 and 2 alpha participate as transcription factors for mul- tiple genes, including the protooncogenes vascular endothe- lial growth factor (VEGF), glucose transporter-1 (GLUT- 1), platelet-derived growth factor (PDGF), and transforming growth factor alpha (TGF alpha) [4]. Normally, HIF prolyl hydroxylase hydroxylates HIF through an oxygen-mediated pathway, which allows it to be ubiquitinated by the Von Hippel-Lindau protein, targeting HIF for proteasomal degra- dation [5]. Under hypoxic conditions, HIF hydroxylase is unable to hydroxylate HIF. This results in elevated levels of HIF which activate expression of its downstream genes. Patients with Reed syndrome are thought to be in a pseudohy- poxic state [6] in which a buildup of 2-oxoglutarate can com- petitively inhibit HIF hydroxylase for poorly understood rea- sons [5], thus ultimately decreasing proteasomal degradation of HIF and leading to upregulation of its downstream pro- tooncogenes, promoting tumorigenesis [5] (Figure 4).
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Developments in the scientific and clinical understanding of autoinflammatory disorders

Developments in the scientific and clinical understanding of autoinflammatory disorders

Hyper IgD and periodic fever syndrome (HIDS) is an auto- somal recessive disease caused by mutations in the mevalo- nate kinase (MVK) gene on the long arm of chromosome 12 [36]. About 60 mutations have been described, spanning the 11-exon gene, the most common of which encode MVK variants V377I and I268T. MVK is the enzyme following HMG CoA (or 3-hydroxy-3-methylglutaryl-coenzyme A) reductase in the pathway involved in cholesterol, farnasyl, and isoprenoid biosynthesis. Most HIDS-causing MVK mutations are missense variants that reduce enzyme activity by 90% to 99% [37]. Other mutations resulting in near-complete absence of enzyme activity cause a much more severe inflammatory disease known as mevalonic aciduria (MVA), features of which include stillbirth, congenital malformations, severe psychomotor retardation, ataxia, myopathy, failure to thrive, and early death.
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Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature

Introduction: Mutations in the NLRP3 gene are associated with the dominantly inherited cryopyrin-associated periodic syndrome (CAPS). The significance of the V198M variant is unclear; it has been reported in association with various CAPS phenotypes and as a variant of uncertain consequence. The aim of this study was to characterize the clinical phenotypes and treatments in individuals with V198M assessed in a single UK center. Methods: DNA samples from 830 subjects with fever syndromes or a family history of CAPS were screened for mutations in the NLRP3 gene with polymerase chain reaction (PCR) and sequencing. A detailed medical history was available in all cases. Inflammatory disease activity was monitored monthly with measurements of serum amyloid A protein (SAA) and C-reactive protein (CRP) in symptomatic individuals.
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Anterior cutaneous nerve entrapment syndrome: management challenges

Anterior cutaneous nerve entrapment syndrome: management challenges

gested that intraperitoneal onlay mesh reinforcement may prevent the entrapment of anterior cutaneous nerves of the neurovascular bundle in patients with refractory ACNES. All 40 patients who participated in the study had a prior injection of a local anesthetic combined with a cortico- steroid ( > 2 consecutive injections at the relevant trigger point), but there was no permanent relief in 30 of them. This study presents the results of the technique in those 30 patients who were scheduled for a laparoscopic insertion of polytetrafluoroethylene mesh at the painful area, aiming to overlap the site of pain, covering at least 4 cm area in all directions. The retrospective analysis of these patients showed excellent short- and long-term success rates of 90% and 71%, respectively. The patients were evaluated for their satisfaction after the treatment based on a verbal rating on a scale of 1–5 (with one being the best satisfaction and five the worst; only scores of 1 and 2 were classified as successful treatment). One patient developed pain 1 month after the operation and underwent another operation using the same technique with successful results. The novelty of this technique relies on the fact that neurovascular bundles of the anterior cutaneous nerves emerging from the lower intercostal nerves normally move freely through a fibrous ring in the abdominal wall. In the patients suffering from ACNES, this bundle is compressed and entrapped on this ring. The application of the mesh may decrease the intra-abdominal pressure on the fibrous ring, therefore preventing the entrapment of the nerve and occurrence of pain. This technique needs further assessment through more studies, preferably randomized controlled trials, in order to provide accurate data about its efficacy and long- term outcome.
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Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas

Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas

Case presentation: A 37-year-old woman suffering from several uterine fibroids presented multiple, painful, papulo-nodules on her left subscapular side, both forearms and legs. The patient underwent surgery on six lesions: five were leiomyomas, whilst one was a dermatofibroma. Genetic sequencing did not evidence known fumarate hydratase gene mutations. Dermoscopy showed a brown delicate pigmented network and included leiomyomas among the non-melanocytic benign skin tumours featuring a dermatofibroma-like pattern. Abdominal computerized-tomography scan did not reveal renal cancer, but brain magnetic resonance imaging showed one asymptomatic cerebral cavernoma. The patient benefited from the surgical removal of the five larger cutaneous lesions and from gabapentin, which relieved her pain.
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Emerging treatment options for early mycosis fungoides

Emerging treatment options for early mycosis fungoides

6. Olsen EA, Whittaker S, Kim YH, et al. Clinical end points and response criteria in mycosis fungoides and Sezary syndrome: a consensus state- ment of the International Society for Cutaneous Lymphomas, the United Stated Cutaneous Lymphoma Consortium, and the cutaneous lymphoma task force of the European Organisation for Research and Treatment of Cancer. J Clin Oncol. 2011;29(18):2598–2607.

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